ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) (rs45442103)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041579 SCV000065274 benign not specified 2007-03-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041579 SCV000316871 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000041579 SCV000717017 benign not specified 2017-05-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000712480 SCV000842981 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
GeneReviews RCV000021070 SCV000041727 benign Deafness, autosomal recessive 9 2011-04-26 no assertion criteria provided curation Converted during submission to Benign.

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